A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307456



Internal ID14807718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27945885..27945886hg38UCSC Ensembl
Innerchr10:27945858..27945913hg38UCSC Ensembl
Outerchr10:27945857..27945914hg38UCSC Ensembl
chr10:28234814..28234815hg19UCSC Ensembl
Innerchr10:28234787..28234842hg19UCSC Ensembl
Outerchr10:28234786..28234843hg19UCSC Ensembl
chr10:28274820..28274821hg18UCSC Ensembl
Innerchr10:28274848..28274793hg18UCSC Ensembl
Outerchr10:28274792..28274849hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758239, essv7753457, essv7745528, essv7751525, essv7742213, essv7759952, essv7759202, essv7740538, essv7755816, essv7741692, essv7743937, essv7754935, essv7758480
SamplesNA18523, NA18501, NA18511, NA18507, NA19147, NA18508, NA19102, NA18522, NA18502, NA18504, NA18909, NA19099, NA18519
Known GenesARMC4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307456
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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